E231G (p.Glu231Gly) variant of ALDH5A1 (P51649)
E231G (p.Glu231Gly) in ALDH5A1 (P51649) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Succinate-semialdehyde dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
E231G (p.Glu231Gly) variant details
- p.Glu231Gly
- rs757605946
- ClinGen CA3656694
- ClinVar RCV001984196
- ClinVar RCV003481240
- Conflicting interpretations
- not provided; Succinate-semialdehyde dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.87
- CADD 25.00
- PolyPhen-2 0.80
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Succinate-semialdehyde dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Succinic Semialdehyde Dehydrogenase Deficiency. (PMID 20301374)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)